Incidental Mutation 'IGL00764:Eif2b3'
ID |
10459 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eif2b3
|
Ensembl Gene |
ENSMUSG00000028683 |
Gene Name |
eukaryotic translation initiation factor 2B, subunit 3 |
Synonyms |
1190002P15Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00764
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
116876559-116944049 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116923666 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 294
(S294P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070610]
[ENSMUST00000106447]
[ENSMUST00000106448]
|
AlphaFold |
B1AUN2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070610
AA Change: S294P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000070334 Gene: ENSMUSG00000028683 AA Change: S294P
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
4 |
139 |
8.2e-20 |
PFAM |
Pfam:NTP_transf_3
|
5 |
226 |
8.5e-19 |
PFAM |
low complexity region
|
247 |
262 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106447
AA Change: S294P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102055 Gene: ENSMUSG00000028683 AA Change: S294P
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
4 |
139 |
1.1e-19 |
PFAM |
Pfam:NTP_transf_3
|
5 |
221 |
1.7e-18 |
PFAM |
low complexity region
|
247 |
262 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106448
AA Change: S294P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102056 Gene: ENSMUSG00000028683 AA Change: S294P
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
4 |
140 |
3.2e-19 |
PFAM |
Pfam:NTP_transf_3
|
5 |
237 |
3.7e-18 |
PFAM |
low complexity region
|
247 |
262 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151760
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155181
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930480E11Rik |
C |
T |
X: 77,413,625 (GRCm39) |
Q117* |
probably null |
Het |
Cep350 |
G |
T |
1: 155,816,492 (GRCm39) |
T401K |
possibly damaging |
Het |
Dnah17 |
A |
G |
11: 117,987,311 (GRCm39) |
V1333A |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,172,603 (GRCm39) |
N285S |
possibly damaging |
Het |
Fanci |
A |
G |
7: 79,045,660 (GRCm39) |
M1V |
probably null |
Het |
Fgd6 |
A |
G |
10: 93,879,496 (GRCm39) |
I117V |
probably benign |
Het |
Fgf15 |
A |
G |
7: 144,450,672 (GRCm39) |
|
probably null |
Het |
Iars1 |
T |
C |
13: 49,865,303 (GRCm39) |
I593T |
probably benign |
Het |
Myof |
A |
T |
19: 37,963,371 (GRCm39) |
C409S |
probably benign |
Het |
Nedd1 |
A |
T |
10: 92,530,836 (GRCm39) |
|
probably benign |
Het |
Neto1 |
A |
T |
18: 86,516,937 (GRCm39) |
H418L |
probably damaging |
Het |
Plxnd1 |
A |
T |
6: 115,944,933 (GRCm39) |
V981E |
possibly damaging |
Het |
Ptpn13 |
T |
C |
5: 103,745,584 (GRCm39) |
V2430A |
probably damaging |
Het |
Thbs2 |
G |
T |
17: 14,910,514 (GRCm39) |
D28E |
probably damaging |
Het |
Vps50 |
C |
T |
6: 3,532,177 (GRCm39) |
Q227* |
probably null |
Het |
Xpnpep2 |
T |
C |
X: 47,220,031 (GRCm39) |
V604A |
probably benign |
Het |
Zfp773 |
T |
G |
7: 7,135,683 (GRCm39) |
K304N |
probably damaging |
Het |
Zfp831 |
A |
G |
2: 174,487,701 (GRCm39) |
E792G |
possibly damaging |
Het |
|
Other mutations in Eif2b3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01333:Eif2b3
|
APN |
4 |
116,927,887 (GRCm39) |
missense |
probably benign |
0.31 |
IGL01564:Eif2b3
|
APN |
4 |
116,885,739 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01721:Eif2b3
|
APN |
4 |
116,916,001 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02061:Eif2b3
|
APN |
4 |
116,885,608 (GRCm39) |
missense |
possibly damaging |
0.78 |
Cambio
|
UTSW |
4 |
116,923,578 (GRCm39) |
nonsense |
probably null |
|
mogrify
|
UTSW |
4 |
116,885,622 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0835:Eif2b3
|
UTSW |
4 |
116,916,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R0924:Eif2b3
|
UTSW |
4 |
116,938,775 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2167:Eif2b3
|
UTSW |
4 |
116,885,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R2424:Eif2b3
|
UTSW |
4 |
116,928,045 (GRCm39) |
missense |
probably benign |
0.01 |
R3902:Eif2b3
|
UTSW |
4 |
116,879,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R4105:Eif2b3
|
UTSW |
4 |
116,938,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R4688:Eif2b3
|
UTSW |
4 |
116,916,046 (GRCm39) |
missense |
probably benign |
0.03 |
R4998:Eif2b3
|
UTSW |
4 |
116,923,589 (GRCm39) |
missense |
probably benign |
0.06 |
R5033:Eif2b3
|
UTSW |
4 |
116,909,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R5123:Eif2b3
|
UTSW |
4 |
116,879,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R5493:Eif2b3
|
UTSW |
4 |
116,943,919 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5787:Eif2b3
|
UTSW |
4 |
116,901,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R5789:Eif2b3
|
UTSW |
4 |
116,885,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R6347:Eif2b3
|
UTSW |
4 |
116,901,763 (GRCm39) |
missense |
probably benign |
0.05 |
R6361:Eif2b3
|
UTSW |
4 |
116,885,622 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6643:Eif2b3
|
UTSW |
4 |
116,927,954 (GRCm39) |
missense |
probably damaging |
0.97 |
R6798:Eif2b3
|
UTSW |
4 |
116,923,655 (GRCm39) |
missense |
probably benign |
0.00 |
R7299:Eif2b3
|
UTSW |
4 |
116,910,019 (GRCm39) |
missense |
probably benign |
0.27 |
R7301:Eif2b3
|
UTSW |
4 |
116,910,019 (GRCm39) |
missense |
probably benign |
0.27 |
R7451:Eif2b3
|
UTSW |
4 |
116,909,993 (GRCm39) |
nonsense |
probably null |
|
R7934:Eif2b3
|
UTSW |
4 |
116,923,675 (GRCm39) |
missense |
probably benign |
|
R8117:Eif2b3
|
UTSW |
4 |
116,879,414 (GRCm39) |
missense |
probably damaging |
0.98 |
R8725:Eif2b3
|
UTSW |
4 |
116,927,944 (GRCm39) |
missense |
probably benign |
0.01 |
R8727:Eif2b3
|
UTSW |
4 |
116,927,944 (GRCm39) |
missense |
probably benign |
0.01 |
R8816:Eif2b3
|
UTSW |
4 |
116,928,052 (GRCm39) |
missense |
probably benign |
|
R8943:Eif2b3
|
UTSW |
4 |
116,901,778 (GRCm39) |
missense |
probably damaging |
0.99 |
R9141:Eif2b3
|
UTSW |
4 |
116,923,578 (GRCm39) |
nonsense |
probably null |
|
R9426:Eif2b3
|
UTSW |
4 |
116,923,578 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2012-12-06 |